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Metadata
ID DOID:0110032
Name autosomal dominant Alport syndrome
Definition An Alport syndrome that has_material_basis_in heterozygous mutation in the COL4A3 gene.
https://www.ncbi.nlm.nih.gov/pubmed/11044206
Xrefs

GARD:624

OMIM:104200

ORDO:88918

Subsets

DO_rare_slim

Parent Relationships

is_a Alport syndrome

is_a autosomal dominant disease

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